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Medical Terms in Prion Disease
14-3-3 test: Detection of elevated levels of the 14-3-3 protein in the cerebrospinal fluid (CSF) has been
reported to support a CJD diagnosis in the scientific literature, but many people with confirmed CJD
have a negative or normal result while many others who do not have CJD, but have other neurological
disease, have a positive result
akinetic mutism: A state where a person can no longer move or talk due to damage to the base of the
brain, but the person is awake (not comatose) and their eyes are open and can follow what is going on
around them
amyloid: A chemical structure that can accumulate in brain tissue becuase of a variety of different
diseases. In CJD, the amyloid is normally made up of the prion protein
ataxia: Shaky movements, wobbliness, unsteady walk and clumsiness usually caused by damage to
the cerebellum, a part of the brain which controls movement
BSE: Bovine spongiform encephalopathy, "mad cow disease"
central nervous system: A general term used to describe the brain and spinal cord
cerebellar ataxia: Shaky movements, wobbliness, unsteady walk and clumsiness usually caused by
damage to the cerebellum, a part of the brain which controls movement
cerebellar signs: Pertaining to the cerebellum, the part of the brain in the back of the head between
the cerebrum and the brain stem; the cerebellum controls balance for walking and standing and other
complex motor functions
cerebrospinal fluid (CSF): A clear, watery liquid that bathes, cushions and protects the brain and
spinal cord
cerebrum: The largest part of the brain; it is responsible for learning and other conscious mental
functions
chorea: Irregular, spasmodic, involuntary movements of the limbs or facial muscles, often
accompanied by hypotonia (decreased tone of skeletal muscles)
codon 129: The human prion protein (PrP) has a common polymorphism at codon 129 of the gene
PRNP; this polymorphism has a strong influence on genetic susceptibility to prion diseases
Creutzfeldt-Jakob disease (CJD): Creutzfeldt-Jakob disease (also called Jakob-Creutzfeldt disease
or CJD) is a rare, degenerative, invariably fatal brain disorder. Typically, onset of symptoms occurs at
about age 60. There are three major categories of CJD: sporadic CJD, genetic CJD and acquired CJD.
There is currently no single diagnostic test for CJD. The first concern is to rule out treatable forms of
dementia such as encephalitis or chronic meningitis. The only way to confirm a diagnosis of CJD is by
brain biopsy or autopsy. While CJD can be transmitted to other people, the risk of this happening is
extremely small.
dementia: Dementia is the general term for a progressive brain disorder that gradually destroys
memory and the ability to learn, reason, make judgments, communicate and carry out daily activities;
the development of dementia in CJD patients is very pronounced over a short period of time (days or
weeks) unlike dementia associated with Alzheimer?s Disease
dysesthesia: Painful sensory symptoms, distortion/impairment of any sense (especially the sense of
touch), a condition in which an unpleasant sensation is produced by ordinary stimuli
dysphagia: Difficulty in swallowing due to problems in nerve or muscle control
dystonia: Involuntary, sustained muscle contractions that frequently cause twisting body motions,
tremor, and abnormal posture (these movements may involve the entire body, or only an isolated area)
electroencephalogram (EEG): An electroencephalogram (EEG) is a recording of the electrical activity
of your brain. Flat metal discs (electrodes) placed on your scalp detect and record the patterns of
electrical activity generated by your brain. The EEG characteristic of CJD is often described as slow
and triphasic in nature. Periodic sharp and slow wave complexes (PSWC) are suggestive but not
specific for CJD.
encephalopathy: Any disease in which the functioning of the brain is affected
extrapyramidal signs: The extrapyramidal system regulates subconscious control of erratic motions,
muscle tone and truncal stability through the basal ganglia; injuries to this system can cause movement
disorders, inability to initiate movement and/or inability to remain motionless
fatal familial insomnia (FFI): Fatal familial insomnia (FFI) is a very rare autosomal dominant inherited
disease of the brain. The dominant gene responsible has been found in just 28 families worldwide; if
only one parent has the gene, the offspring have a 50% chance of inheriting it and developing the
disease. The patient's progression into complete sleeplessness is untreatable, and ultimately fatal.
There are four stages of the disease:
The first stage is progressive insomnia that develops over approximately four months and
includes a collection of psychiatric problems such as panic attacks and bizarre phobias.
The second stage includes hallucinations, panic, agitation and sweating and lasts about five
months.
The third stage lasts about three months and is total insomnia with weight loss. The
individual at this point looks much older and may experience incontinence.
The fourth stage is around six months long and is recognized as dementia, total insomnia
and sudden death after becoming mute.
florid plaques: The neuropathology of vCJD is significantly different from sCJD. For example, a large
number of PrP amyloid plaques surrounded by a halo of vacuolation (?florid plaques?) are seen,
particularly in the cerebral and cerebellar cortical gray matter. The florid plaques are not specific for
vCJD but their widespread distribution is characteristic of the disease.
gait: How a person walks
Gerstmann-Sträussler-Scheinker (GSS) syndrome:Gerstmann-Straussler-Scheinker disease (GSS)
is an extremely rare, neurodegenerative brain disorder. It is almost always inherited and is found in only
a few families around the world. Onset of the disease usually occurs between the ages of 35 and 55. In
the early stages, patients may experience varying levels of ataxia (lack of muscle coordination),
including clumsiness, unsteadiness, and difficulty walking. As the disease progresses, the ataxia
becomes more pronounced and most patients develop dementia. GSS belongs to a family of human
and animal diseases known as the transmissible spongiform encephalopathies (TSEs) or prion
diseases. Other prion diseases include Jakob-Creutzfeldt disease, kuru and fatal familial insomnia.
gliosis: A process leading to scars in the central nervous system that involves the production of a
dense fibrous network of neuroglia (supporting cells) in areas of damage. Gliosis is a prominent feature
of many diseases of the central nervous system, including frontotemporal dementia, Alzheimer's
disease, multiple sclerosis and stroke. After a stroke, neurons die and disappear with replacement
gliosis.
human prion disease: Prion diseases or transmissible spongiform encephalopathies (TSEs) are a
family of rare progressive neurodegenerative disorders that affect both humans and animals. They are
distinguished by long incubation periods, characteristic spongiform changes associated with neuronal
loss, and a failure to induce inflammatory response. The causative agent of TSEs is believed to be a
prion. A disease due to a prion, a proteinaceous infectious particle that lacks nucleic acids. Prions are
composed largely, if not entirely, of an altered formal (an abnormal isoform) of a normal cellular protein.
hyperreflexia: An abnormal, increased action of the reflexes; a reaction of the autonomic (involuntary)
nervous system to over-stimulation
iatrogenic: Cases acquired as the result of accidental transmission from one patient to another by
medical or surgical procedures
Jakob-Creutzfeldt disease (CJD): Jakob-Creutzfeldt disease (also called Creutzfeldt-Jakob disease
or CJD) is a rare, degenerative, invariably fatal brain disorder. Typically, onset of symptoms occurs at
about age 60. There are three major categories of CJD: sporadic CJD, genetic CJD and acquired CJD.
There is currently no single diagnostic test for CJD. The first concern is to rule out treatable forms of
dementia such as encephalitis or chronic meningitis. The only way to confirm a diagnosis of CJD is by
brain biopsy or autopsy. While CJD can be transmitted to other people, the risk of this happening is
extremely small.
MRI (magnetic resonance imaging): A radiology technique that uses magnetism, radio waves and a
computer to produce non-invasive, high quality images of internal structures of the body. An MRI is
painless, does not use x-ray radiation and is a powerful tool for delineating brain structure.
myoclonus: Sudden, involuntary jerking or twitching of a muscle or group of muscles
National Prion Disease Pathology Surveillance Center (NPDPSC): Established in 1997 at the
Division of Neuropathology of Case Western Reserve University to monitor the occurrence of prion
diseases, or transmissible spongiform encephalopathies, it is the national NIH-funded testing and
surveillance center for CJD
prion: A infectious agent made up of abnormally folded protein and no genetic material. A diseasecausing agent that is neither bacterial nor fungal nor viral and contains no genetic material. A prion is a
protein that occurs normally in a harmless form. By folding into an aberrant shape, the normal prion
turns into a rogue agent. It then co-opts other normal prions to become rogue prions.
PRNP mutation: Familial CJD is very rare, and is due to an inherited genetic defect (a mutation) of the
gene called PRNP, which is responsible for producing normal prion protein. The mutant gene seems to
lead to an abnormal or disease-related form of the protein
prodromal symptoms: Any symptom affecting a system other than the nervous system preceding the
first neurologic symptom or sign.
pulvinar sign: Symmetrically increased signal intensity in the pulvinar region (posterior part of the
thalamus) relative to the signal intensity in other deep and cortical gray matter areas on an MRI; the
presence of this MRI feature may suggest a vCJD diagnosis in the appropriate clinical context
pyramidal signs: The pyramidal system controls all of our voluntary movements; it is made up of two
systems: upper motor neurons in the primary motor cortex and lower motor neurons in the anterior horn
of the spinal cord; the axons of the corticospinal tract the condense to form the pyramids ? giving the
system its name; injuries to this system can cause paralysis
rapidly progressive dementia: A form of dementia in which the time course from first symptom to
dementia is less than two years and often less than one year
sign: A sign is an indication that something is not right in the body; defined as things that can be seen
by a doctor, nurse or other health care professional; fever, rapid breathing rate and abnormal breathing
sounds heard through a stethoscope may be signs of pneumonia
spongiform change: The older terminology for ?vacuolation?
symptom: An indication of disease, illness, injury or that something is not right in the body; symptoms
are felt or noticed by a person, but may not easily be noticed by anyone else; chills, weakness,
shortness of breath, and a cough may be symptoms of pneumonia
transmissible spongiform encephalopathy (TSE): A family of rare progressive neurodegenerative
disorders that affect both humans and animals and are caused by prions
vacuolation: A neuropathologic term that replaces the older terminology of ?spongiform change.? This
term describes the fluid-filled vesicles (vacuoles) that are seen at dendrite terminals in the neuropil (the
network of nerve fibers, neuroglial cells and synapses in the gray matter). Brain damage characterized
by a spongy appearance of brain tissue seen under a microscope. This is considered to be a classic
neuropathologic feature of prion diseases.
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